An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank

Journal article

UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes. Previously, we published genome-wide associations of 3,144 brain imaging-derived phenotypes, with a discovery sample of 8,428 individuals. Here we present a new open resource of genome-wide association study summary statistics, using the 2020 data release, almost tripling the discovery sample size. We now include the X chromosome and new classes of imaging-derived phenotypes (subcortical volumes and tissue contrast). Previously, we found 148 replicated clusters of associations between genetic variants and imaging phenotypes; in this study, we found 692, including 12 on the X chromosome. We describe some of the newly found associations, focusing on the X chromosome and autosomal associations involving the new classes of imaging-derived phenotypes. Our novel associations implicate, for example, pathways involved in the rare X-linked STAR (syndactyly, telecanthus and anogenital and renal malformations) syndrome, Alzheimer’s disease and mitochondrial disorders.

Authors: Smith, SM; Douaud, G; Chen, W; Hanayik, T; Alfaro-Almagro, F

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Nature Research
• Journal: Nature Neuroscience
• Volume: 24
• Pages: 737-745
• Publication date: 2021-04-19
• Acceptance date: 2021-02-23
• DOI: 10.1038/s41593-021-00826-4
• EISSN: 1546-1726
• ISSN: 1097-6256
• Language: English
• Keywords: FFR